Use

This test is used for carrier and diagnostic testing for GALT‑related galactosemia. It detects pathogenic variants in the GALT gene, including both sequence changes and deletion/duplication events, to support the diagnosis of classic or clinical variant galactosemia and assessment of carrier status. Establishing a molecular diagnosis may guide clinical management, enable family planning, and facilitate early intervention where applicable. Clinical context typically includes individuals with decreased GALT enzyme activity or a family history of galactosemia.